NM_170707.4(LMNA):c.294G>A (p.Glu98=) AND Hutchinson-Gilford syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000297999.3

Allele description [Variation Report for NM_170707.4(LMNA):c.294G>A (p.Glu98=)]

NM_170707.4(LMNA):c.294G>A (p.Glu98=)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
HGVS:
  • NC_000001.11:g.156115212G>A
  • NG_008692.2:g.37640G>A
  • NM_001282625.2:c.294G>A
  • NM_001282626.2:c.294G>A
  • NM_005572.4:c.294G>A
  • NM_170707.4:c.294G>AMANE SELECT
  • NM_170708.4:c.294G>A
  • NP_001269554.1:p.Glu98=
  • NP_001269555.1:p.Glu98=
  • NP_005563.1:p.Glu98=
  • NP_005563.1:p.Glu98=
  • NP_733821.1:p.Glu98=
  • NP_733822.1:p.Glu98=
  • LRG_254t1:c.294G>A
  • LRG_254t2:c.294G>A
  • LRG_254:g.37640G>A
  • LRG_254p1:p.Glu98=
  • NC_000001.10:g.156085003G>A
  • NM_005572.3:c.294G>A
  • NM_170707.2:c.294G>A
Links:
dbSNP: rs886045363
NCBI 1000 Genomes Browser:
rs886045363
Molecular consequence:
  • NM_001282625.2:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282626.2:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005572.4:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170707.4:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170708.4:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hutchinson-Gilford syndrome (HGPS)
Synonyms:
Progerin-producing progeroid laminopathy
Identifiers:
MONDO: MONDO:0008310; MedGen: C0033300; Orphanet: 740; OMIM: 176670

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000348758Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000348758.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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